Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs405509
rs405509
APOE
0.667 0.480 19 44905579 upstream gene variant T/G snv 0.58
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.900 0.950 20 2009 2019
dbSNP: rs11542041
rs11542041
APOE
0.677 0.480 19 44908690 missense variant C/A;T snv 2.1E-05
CUI: C0020479
Disease: Hyperlipoproteinemia Type III
Hyperlipoproteinemia Type III 		0.100 1.000 12 1987 2014
dbSNP: rs769446
rs769446
APOE
0.882 0.120 19 44905371 upstream gene variant T/C snv 7.0E-02
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.740 1.000 5 2009 2018
dbSNP: rs11542041
rs11542041
APOE
0.677 0.480 19 44908690 missense variant C/A;T snv 2.1E-05
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia 		0.040 0.750 4 1984 2004
dbSNP: rs449647
rs449647
APOE
0.925 0.120 19 44905307 upstream gene variant A/T snv 0.21
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.730 1.000 4 2009 2018
dbSNP: rs769449
rs769449
APOE
0.882 0.120 19 44906745 non coding transcript exon variant G/A snv 8.4E-02
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.800 1.000 4 2012 2019
dbSNP: rs11542041
rs11542041
APOE
0.677 0.480 19 44908690 missense variant C/A;T snv 2.1E-05
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis 		0.030 1.000 3 1998 2000
dbSNP: rs11542041
rs11542041
APOE
0.677 0.480 19 44908690 missense variant C/A;T snv 2.1E-05
CUI: C0263420
Disease: Hyperkeratosis lenticularis perstans
Hyperkeratosis lenticularis perstans 		0.030 1.000 3 1995 2001
dbSNP: rs11542041
rs11542041
APOE
0.677 0.480 19 44908690 missense variant C/A;T snv 2.1E-05
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis 		0.030 1.000 3 1998 2000
dbSNP: rs11542041
rs11542041
APOE
0.677 0.480 19 44908690 missense variant C/A;T snv 2.1E-05
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		0.030 1.000 3 2004 2007
dbSNP: rs405509
rs405509
APOE
0.667 0.480 19 44905579 upstream gene variant T/G snv 0.58
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 3 2012 2013
dbSNP: rs405509
rs405509
APOE
0.667 0.480 19 44905579 upstream gene variant T/G snv 0.58
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 3 2012 2013
dbSNP: rs1081105
rs1081105
APOE
1.000 0.080 19 44909698 non coding transcript exon variant A/C snv 3.0E-02
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.700 1.000 2 2018 2019
dbSNP: rs115299243
rs115299243
APOE
19 44907291 non coding transcript exon variant A/G snv 7.1E-03
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 2 2018 2019
dbSNP: rs1233347077
rs1233347077
APOE
0.851 0.160 19 44905894 missense variant G/C snv 7.0E-06
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.020 < 0.001 2 2010 2011
dbSNP: rs1440976751
rs1440976751
APOE
1.000 0.080 19 44907789 missense variant G/A snv
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.020 1.000 2 2006 2008
dbSNP: rs405509
rs405509
APOE
0.667 0.480 19 44905579 upstream gene variant T/G snv 0.58
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		0.020 1.000 2 2016 2019
dbSNP: rs405509
rs405509
APOE
0.667 0.480 19 44905579 upstream gene variant T/G snv 0.58
CUI: C1561643
Disease: Chronic Kidney Diseases
Chronic Kidney Diseases 		0.020 1.000 2 2009 2009
dbSNP: rs7259620
rs7259620
APOE
0.925 0.120 19 44904531 upstream gene variant G/A;C snv
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.800 1.000 2 2013 2019
dbSNP: rs7259620
rs7259620
APOE
0.925 0.120 19 44904531 upstream gene variant G/A;C snv
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		0.020 1.000 2 2018 2019
dbSNP: rs769449
rs769449
APOE
0.882 0.120 19 44906745 non coding transcript exon variant G/A snv 8.4E-02
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 2 2018 2019
dbSNP: rs769449
rs769449
APOE
0.882 0.120 19 44906745 non coding transcript exon variant G/A snv 8.4E-02
CUI: C0201657
Disease: C-reactive protein measurement
C-reactive protein measurement 		0.800 1.000 2 2008 2019
dbSNP: rs769449
rs769449
APOE
0.882 0.120 19 44906745 non coding transcript exon variant G/A snv 8.4E-02
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 2 2018 2019
dbSNP: rs769449
rs769449
APOE
0.882 0.120 19 44906745 non coding transcript exon variant G/A snv 8.4E-02
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.700 1.000 2 2018 2019
dbSNP: rs769449
rs769449
APOE
0.882 0.120 19 44906745 non coding transcript exon variant G/A snv 8.4E-02
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.700 1.000 2 2013 2019